KEGG   Homo sapiens (human): 9949
Entry
9949              CDS       T01001                                 
Symbol
AMMECR1, AMMERC1, MFHIEN
Name
(RefSeq) AMMECR nuclear protein 1
  KO
K24611  AMME syndrome candidate gene 1 protein
Organism
hsa  Homo sapiens (human)
Disease
H02383  Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99995 Signaling proteins
    9949 (AMMECR1)
SSDB
Motif
Pfam: AMMECR1
Other DBs
NCBI-GeneID: 9949
NCBI-ProteinID: NP_056180
OMIM: 300195
HGNC: 467
Ensembl: ENSG00000101935
UniProt: Q9Y4X0 A0A0S2Z4X0
Position
X:complement(110194186..110440233)
AA seq 333 aa
MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLT
GGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPG
SRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFS
AMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIR
IEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSE
KMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS
NT seq 1002 nt   +upstreamnt  +downstreamnt
atggcggcgggttgctgcggggtgaagaagcagaaactgtccagttcgcccccctctggc
tcgggtggcggtggtggcgcctcctcctcctcccactgcagcggagagagccagtgccga
gctggggagctgggactaggaggcgccggtacgcggctcaacgggctgggaggtctaacc
ggaggaggtagcggcagcggctgtaccctctctcccccccagggctgcggcggcggcggc
ggggggatcgccctgtcgccacctccgagctgcggagtggggaccctactttctaccccg
gccgccgccacctcttcctcaccctcctcatcgtccgccgcctcgtcctcatcgccgggc
tcccggaagatggtggtgtcagcagagatgtgctgcttttgcttcgatgtgctctactgt
cacctgtatggataccagcagccccggaccccccgattcaccaacgagccctacccactg
tttgtaacatggaagattggtcgagacaaaagattacgtggatgcataggtactttttct
gccatgaatttgcattcaggactcagggagtacacacttaccagtgcccttaaagatagc
cgttttcccccaatgacaagggatgagctgccacggcttttctgctcagtgtctctgctc
actaactttgaagatgtctgtgattatttggactgggaggtgggtgtacatggcattaga
atagaattcatcaatgaaaaaggatcaaaacgcaccgccacctacctaccggaggttgca
aaggagcaaggatgggaccatatacagaccatagactccttattgaggaaaggaggatac
aaagctccgattactaatgaattcaggaaaaccataaaactgaccaggtatcgtagtgaa
aagatgaccctgagctatgctgaataccttgctcatcgccagcatcatcatttccaaaat
ggcattgggcatccccttccgccatacaaccattattcctga

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